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Non-manifesting AHI1 truncations indicate localized loss-of-function tolerance in a severe Mendelian disease gene.
Elsayed SM, Phillips JB, Heller R, Thoenes M, Elsobky E, Nürnberg G, Nürnberg P, Seland S, Ebermann I, Altmüller J, Thiele H, Toliat M, Körber F, Hu XJ, Wu YD, Zaki MS, Abdel-Salam G, Gleeson J, Boltshauser E, Westerfield M, Bolz HJ. Elsayed SM, et al. Among authors: korber f. Hum Mol Genet. 2015 May 1;24(9):2594-603. doi: 10.1093/hmg/ddv022. Epub 2015 Jan 23. Hum Mol Genet. 2015. PMID: 25616960 Free PMC article.
Slow progression of a small Wilms' tumor.
Simon T, Feldkötter M, Buiting K, Ortmann M, Bolz H, Körber F. Simon T, et al. Among authors: korber f. Klin Padiatr. 2010 May;222(3):190-1. doi: 10.1055/s-0030-1249008. Epub 2010 May 31. Klin Padiatr. 2010. PMID: 20514626
A homozygous RAB3GAP2 mutation causes Warburg Micro syndrome.
Borck G, Wunram H, Steiert A, Volk AE, Körber F, Roters S, Herkenrath P, Wollnik B, Morris-Rosendahl DJ, Kubisch C. Borck G, et al. Among authors: korber f. Hum Genet. 2011 Jan;129(1):45-50. doi: 10.1007/s00439-010-0896-2. Epub 2010 Oct 22. Hum Genet. 2011. PMID: 20967465
Acetylcholine receptor pathway mutations explain various fetal akinesia deformation sequence disorders.
Michalk A, Stricker S, Becker J, Rupps R, Pantzar T, Miertus J, Botta G, Naretto VG, Janetzki C, Yaqoob N, Ott CE, Seelow D, Wieczorek D, Fiebig B, Wirth B, Hoopmann M, Walther M, Körber F, Blankenburg M, Mundlos S, Heller R, Hoffmann K. Michalk A, et al. Among authors: korber f. Am J Hum Genet. 2008 Feb;82(2):464-76. doi: 10.1016/j.ajhg.2007.11.006. Am J Hum Genet. 2008. PMID: 18252226 Free PMC article.
Ossifying renal tumor of infancy (ORTI) - a rare diagnosis.
Höglund HH, Kellner MW, Körber F, Dienes HP, Ortmann M, Boemers TM. Höglund HH, et al. Among authors: korber f. Klin Padiatr. 2011 May;223(3):178-9. doi: 10.1055/s-0031-1275350. Epub 2011 May 12. Klin Padiatr. 2011. PMID: 21567371 No abstract available.
97 results